Variant-level matching for diagnosis and discovery: Challenges and opportunities.

Rodrigues, Eliete da S; Griffith, Sean; Martin, Renan; Antonescu, Corina; Posey, Jennifer E; Coban-Akdemir, Zeynep; Jhangiani, Shalini N; Doheny, Kimberly F; Lupski, James R; Valle, David; Bamshad, Michael J; Hamosh, Ada; Sheffer, Assaf; Chong, Jessica X; Einhorn, Yaron; Cupak, Miro; Sobreira, Nara

Rodrigues, Eliete da S; Griffith, Sean; Martin, Renan; Antonescu, Corina; Posey, Jennifer E; Coban-Akdemir, Zeynep; Jhangiani, Shalini N; Doheny, Kimberly F; Lupski, James R; Valle, David; Bamshad, Michael J; Hamosh, Ada; Sheffer, Assaf; Chong, Jessica X; Einhorn, Yaron; Cupak, Miro; Sobreira, Nara.

Afiliación

Rodrigues EDS; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Griffith S; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Martin R; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Antonescu C; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Doheny KF; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Lupski JR; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Valle D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
Bamshad MJ; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA.
Hamosh A; Department of Pediatrics, Baylor College of Medicine, Houston, Texas, USA.
Sheffer A; Texas Children's Hospital, Houston, Texas, USA.
Chong JX; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
Einhorn Y; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.
Cupak M; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA.
Sobreira N; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.

Hum Mutat ; 43(6): 782-790, 2022 06.

Article en En | MEDLINE | ID: mdl-35191117

ABSTRACT

ABSTRACT

Here we describe MyGene2, Geno2MP, VariantMatcher, and Franklin; databases that provide variant-level information and phenotypic features to researchers, clinicians, healthcare providers and patients. Following the footsteps of the Matchmaker Exchange project that connects exome, genome, and phenotype databases at the gene level, these databases have as one goal to facilitate connection to one another using Data Connect, a standard for discovery and search of biomedical data from the Global Alliance for Genomics and Health (GA4GH).

Asunto(s)

Bases de Datos Genéticas; Difusión de la Información; Exoma/genética; Genómica; Humanos; Fenotipo

Palabras clave

Data Connect; Franklin; Geno2MP; Matching Tools; MyGene2; VariantMatcher; variant-level

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Texto completo: 1 Bases de datos: MEDLINE Asunto principal: Bases de Datos Genéticas / Difusión de la Información Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: Hum Mutat Asunto de la revista: GENETICA MEDICA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos

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